APS 1
MCID: ATM002
MIFTS: 48

Autoimmune Polyendocrine Syndrome Type 1 (APS 1)

Categories: Endocrine diseases, Immune diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 1

MalaCards integrated aliases for Autoimmune Polyendocrine Syndrome Type 1:

Name: Autoimmune Polyendocrine Syndrome Type 1 12 54 15
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 12 54
Autoimmune Polyendocrinopathy Syndrome Type 1 54 38
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 54
Autoimmune Polyglandular Syndrome Type 1 54
Autoimmune Polyglandular Syndrome Type I 54
Polyglandular Autoimmune Syndrome Type 1 54
Type I Polyglandular Autoimmune Syndrome 54
Polyglandular Type I Autoimmune Syndrome 74
Autoimmune Polyglandular Syndrome I 12
Whitaker Syndrome 54
Whitaker Syndrom 12
Aps 1 54
Pga 1 54
Pga-I 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0050167
KEGG 38 H01972
UMLS 74 C0085859

Summaries for Autoimmune Polyendocrine Syndrome Type 1

NIH Rare Diseases : 54 Autoimmune polyglandular syndrome type 1 is an inheritedautoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. This syndrome can cause a variety of additional signs and symptoms,  such as weak teeth (enamel hypoplasia) and chronic diarrhea or constipation. Also, about 60% of the women with APS-1 who are younger than 30 years of age develop primary ovarian insufficiency.  Complications of APS-1 can affect the bones, joints, skin, and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and several internal organs (kidneys, liver, lungs and the spleen). Anemia may also be present due to a lack of production of the red blood cells. Type 1 diabetes also occurs in some patients with this condition. APS-1 is progressive, with symptoms appearing at different time intervals (chronic mucocutaneous candidiasis and hypoparathyroidism classically appear early in childhood, whereas adrenal insufficiency usually start in the second decade of life).  Diagnosis is suspected when  there are at least two of these features, specially in young people. APS-1 is caused by variations (mutations) in the AIRE gene. Inheritance is  autosomal recessive. Treatment may include hormone-replacement, and medication for candidiasis, as well as specific treatment of any complications. Patients with APS-1 are best followed by an endocrinologist and other specialists.    Most people with APS-1, develop earlier and more severe symptoms than people with  a related disease known as autoimmune polyendocrine syndrome type 2 (APS-2).

MalaCards based summary : Autoimmune Polyendocrine Syndrome Type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is related to autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia and hypoparathyroidism, and has symptoms including diarrhea An important gene associated with Autoimmune Polyendocrine Syndrome Type 1 is TDRD6 (Tudor Domain Containing 6), and among its related pathways/superpathways are Primary immunodeficiency and Neuroscience. The drugs Apremilast and Isoflurane have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and kidney, and related phenotypes are growth/size/body region and respiratory system

Disease Ontology : 12 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

Wikipedia : 77 Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune... more...

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome, Type Ii Autoimmune Polyendocrine Syndrome Type 1

Diseases related to Autoimmune Polyendocrine Syndrome Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 30.6 AIRE CASR CYP21A2 DDC TH TPH1
2 hypoparathyroidism 30.5 AIRE CASR
3 chronic mucocutaneous candidiasis 30.3 AIRE IL17A
4 autoimmune polyendocrine syndrome 29.9 AIRE CASR DDC IL17A NLRP5 TDRD6
5 autoimmune oophoritis 11.4
6 autoimmune disease 10.6
7 squamous cell carcinoma 10.6
8 cataract 10.4
9 keratopathy 10.4
10 leukemia 10.4
11 pure red-cell aplasia 10.4
12 oral candidiasis 10.4
13 panniculitis 10.4
14 urticaria 10.4
15 long qt syndrome 10.4
16 myopathy 10.4
17 thyroiditis 10.4
18 lung disease 10.4
19 herpes simplex 10.4
20 large granular lymphocyte leukemia 10.4
21 autoimmune hypoparathyroidism 10.4
22 hypoparathyroidism, familial isolated 10.2 AIRE CASR
23 candidiasis 10.2
24 parathyroid gland disease 10.2 AIRE CASR
25 alopecia 10.2
26 nail disease 10.2 AIRE IL17A
27 autoimmune addison disease 10.2 AIRE CYP21A2
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1 AIRE IL17A
29 adrenal cortical hypofunction 10.1 AIRE CYP21A2
30 opportunistic mycosis 10.1 AIRE IL17A
31 systemic lupus erythematosus 10.1
32 autoimmune hepatitis 10.1
33 hepatitis 10.1
34 intestinal disease 10.1
35 vasculitis 10.1
36 lupus erythematosus 10.1
37 cytokine deficiency 10.1
38 rheumatoid arthritis 10.0
39 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0
40 infantile liver failure syndrome 1 10.0
41 acute liver failure 10.0
42 arthritis 10.0
43 dilated cardiomyopathy 10.0
44 lymphocytic leukemia 10.0
45 juvenile rheumatoid arthritis 10.0
46 retinal degeneration 10.0
47 growth hormone deficiency 10.0
48 lymphangiectasia, intestinal 10.0
49 pernicious anemia 10.0
50 alopecia universalis congenita 10.0

Graphical network of the top 20 diseases related to Autoimmune Polyendocrine Syndrome Type 1:



Diseases related to Autoimmune Polyendocrine Syndrome Type 1

Symptoms & Phenotypes for Autoimmune Polyendocrine Syndrome Type 1

UMLS symptoms related to Autoimmune Polyendocrine Syndrome Type 1:


diarrhea

MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome Type 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 AIRE CASR DDC IL17A TH TPH1
2 respiratory system MP:0005388 9.02 AIRE IL17A TH TPH1 TPH2

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome Type 1

Drugs for Autoimmune Polyendocrine Syndrome Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Apremilast Approved, Investigational Phase 4 608141-41-9 11561674
2
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
5 Angiogenesis Inhibitors Phase 4
6 Angiogenesis Modulating Agents Phase 4
7 Peripheral Nervous System Agents Phase 4,Phase 2
8 Anti-Bacterial Agents Phase 4,Phase 2
9 Anti-Inflammatory Agents Phase 4
10 Anti-Infective Agents Phase 4,Phase 2
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4
12 Immunosuppressive Agents Phase 4
13 Immunologic Factors Phase 4
14 Analgesics Phase 4,Phase 2
15 Antirheumatic Agents Phase 4
16 Analgesics, Non-Narcotic Phase 4,Phase 2
17 Hypnotics and Sedatives Phase 4
18 Pharmaceutical Solutions Phase 4,Phase 2
19 Anesthetics, General Phase 4
20 Soybean oil, phospholipid emulsion Phase 4
21 Anesthetics Phase 4
22 Anesthetics, Inhalation Phase 4
23 Anesthetics, Intravenous Phase 4
24 Soy Bean Phase 4
25 Fat Emulsions, Intravenous Phase 4
26 Parenteral Nutrition Solutions Phase 4
27 Central Nervous System Depressants Phase 4
28
Mineral oil Approved, Vet_approved Phase 2, Phase 3 8042-47-5
29
Tocopherol Approved, Investigational Phase 2, Phase 3 1406-66-2 14986
30
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3 59-02-9 14985
31 Tocotrienol Investigational Phase 2, Phase 3 6829-55-6
32 Tocopherols Phase 2, Phase 3
33 Vitamins Phase 2, Phase 3
34 Tocotrienols Phase 2, Phase 3
35 Omega 3 Fatty Acid Phase 2, Phase 3
36
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
37
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
38
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
39 Anticonvulsants Phase 2
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
41 Hormone Antagonists Phase 2
42 Epidiolex Phase 2
43 Hallucinogens Phase 2
44 Neurotransmitter Agents Phase 2
45 Hormones Phase 2
46 Psychotropic Drugs Phase 2
47 Olive Phase 2
48 Cannabinoid Receptor Agonists Phase 2
49 Liposomal amphotericin B Phase 2
50 Antiparasitic Agents Phase 2

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Apremilast in the Treatment of Central Centrifugal Cicatricial Alopecia (CCCA) Recruiting NCT03521687 Phase 4 Apremilast
2 Propofol and Perioperative Inflammation Completed NCT01115179 Phase 4 propofol;Intralipid 10%;Saline
3 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome. Unknown status NCT02070211 Phase 2, Phase 3
4 Cannabinoids for Behavioral Problems in Children With ASD Completed NCT02956226 Phase 2 Cannabinoids - 99% pure cannabinoids mix;Placebo;Cannabinoids - whole plant extract
5 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
6 Stem Cell Educator Therapy in Diabetes Recruiting NCT03390231 Phase 2
7 Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome Active, not recruiting NCT03751683
8 Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 Not yet recruiting NCT03800056
9 Return to Physical Activity Following Injury: Towards Understanding a More Accessible Solution for Shorter Recovery Time. Not yet recruiting NCT03899714 Not Applicable
10 Natural History of Individuals With Immune System Problems That Lead to Fungal Infections Recruiting NCT01386437
11 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
12 Does "Kinesio-taping" Affect Balance in Healthy Individuals? Completed NCT03219905 Not Applicable
13 Efficacy of Vivomixx on Behaviour and Gut Function in Autism Spectrum Disorder Recruiting NCT03369431 Not Applicable
14 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741
15 Feasibility of Virtual Reality in Children With Neuromuscular Disease, Effectiveness of Virtual Reality and Biofeedback Not yet recruiting NCT03689660 Not Applicable
16 Early Diagnostic of Sepsis and Potential Impact on Antibiotic Management Based on Serial.Pancreatic Stone Protein (PSP) Measured Using the AbioScope. Recruiting NCT03474809
17 Different Proprioceptive Neuromuscular Facilitation (PNF) Technique in Patients With Knee Osteoarthritis Recruiting NCT03615521 Not Applicable
18 Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome Recruiting NCT02421276 Not Applicable

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome Type 1

Genetic Tests for Autoimmune Polyendocrine Syndrome Type 1

Anatomical Context for Autoimmune Polyendocrine Syndrome Type 1

MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome Type 1:

42
Bone, Lung, Kidney, Liver, Eye, Spleen, Thyroid

Publications for Autoimmune Polyendocrine Syndrome Type 1

Articles related to Autoimmune Polyendocrine Syndrome Type 1:

(show top 50) (show all 69)
# Title Authors Year
1
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. ( 30565240 )
2019
2
Oral microbiota in autoimmune polyendocrine syndrome type 1. ( 29503707 )
2018
3
Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1. ( 29437776 )
2018
4
Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1. ( 30177913 )
2018
5
The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers. ( 30287219 )
2018
6
Calcium-Sensing Receptor Autoantibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1: Epitopes, Specificity, Functional Affinity, IgG Subclass, and Effects on Receptor Activity. ( 30381479 )
2018
7
Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1. ( 30510552 )
2018
8
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. ( 28446514 )
2017
9
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 28540407 )
2017
10
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. ( 28911151 )
2017
11
Clonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment. ( 28736829 )
2017
12
Assessment of autoantibodies to interferon-I8 in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay. ( 28099118 )
2017
13
Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1. ( 28557628 )
2017
14
Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1. ( 28919897 )
2017
15
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. ( 27253668 )
2016
16
Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. ( 26830021 )
2016
17
Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism. ( 27219120 )
2016
18
Anticommensal Responses Are Associated with Regulatory T Cell Defect in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients. ( 26903483 )
2016
19
Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED): A "Rare" Manifestation in a "Rare" Disease. ( 27420045 )
2016
20
Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. ( 26312540 )
2015
21
Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. ( 25475693 )
2015
22
Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1. ( 26181530 )
2015
23
Expanding the spectrum: chronic urticaria and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. ( 25707324 )
2015
24
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. ( 26141571 )
2015
25
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. ( 24792136 )
2014
26
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. ( 25361846 )
2014
27
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. ( 24988226 )
2014
28
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. ( 23365130 )
2013
29
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 23342054 )
2013
30
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. ( 23122533 )
2013
31
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. ( 23182718 )
2013
32
Autoimmune polyendocrine syndrome type 1: case report and review of literature. ( 22460196 )
2012
33
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. ( 21901851 )
2012
34
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. ( 22344197 )
2012
35
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. ( 22506635 )
2012
36
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. ( 21198756 )
2011
37
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. ( 21182094 )
2011
38
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. ( 20453472 )
2010
39
The Boston keratoprosthesis in 2 patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. ( 20098316 )
2010
40
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. ( 19382990 )
2009
41
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. ( 19251657 )
2009
42
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. ( 19837919 )
2009
43
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). ( 19382992 )
2009
44
[Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. ( 18296018 )
2008
45
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. ( 18322283 )
2008
46
Innate and adaptive immunity in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. ( 18399903 )
2008
47
Oral health in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). ( 19054479 )
2008
48
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. ( 17215373 )
2007
49
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. ( 17374709 )
2007
50
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. ( 17118990 )
2007

Variations for Autoimmune Polyendocrine Syndrome Type 1

Expression for Autoimmune Polyendocrine Syndrome Type 1

Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome Type 1.

Pathways for Autoimmune Polyendocrine Syndrome Type 1

Pathways related to Autoimmune Polyendocrine Syndrome Type 1 according to KEGG:

38
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

Pathways related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1 12.27 DDC TH TPH1 TPH2
3 11.83 DDC TH TPH1 TPH2
4 11.71 DDC TPH1 TPH2
5
Show member pathways
11.62 DDC TPH1 TPH2
6 11.54 DDC TH TPH1
7
Show member pathways
11.17 TH TPH2
8 11 DDC TH
9
Show member pathways
10.9 TH TPH1 TPH2
10 10.78 DDC TPH1 TPH2
11 10.64 DDC TH
12 10.54 DDC TH
13
Show member pathways
10.53 DDC TH TPH1 TPH2
14
Show member pathways
10.47 DDC TH TPH1

GO Terms for Autoimmune Polyendocrine Syndrome Type 1

Cellular components related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.13 CASR DDC TH
2 neuron projection GO:0043005 8.92 CASR TH TPH1 TPH2

Biological processes related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.84 CYP21A2 TH TPH1 TPH2
2 circadian rhythm GO:0007623 9.61 DDC TPH1 TPH2
3 cellular response to drug GO:0035690 9.59 DDC TH
4 response to calcium ion GO:0051592 9.58 CASR TPH2
5 cellular response to glucose stimulus GO:0071333 9.58 CASR TH
6 response to nutrient levels GO:0031667 9.57 TH TPH2
7 cellular response to growth factor stimulus GO:0071363 9.56 DDC TH
8 response to activity GO:0014823 9.55 TH TPH2
9 response to immobilization stress GO:0035902 9.52 TH TPH1
10 response to metal ion GO:0010038 9.51 CASR TH
11 multicellular organism aging GO:0010259 9.49 DDC TH
12 dopamine biosynthetic process GO:0042416 9.48 DDC TH
13 cellular response to alkaloid GO:0071312 9.46 DDC TH
14 catecholamine biosynthetic process GO:0042423 9.4 DDC TH
15 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.37 DDC TH
16 response to pyrethroid GO:0046684 9.32 DDC TH
17 isoquinoline alkaloid metabolic process GO:0033076 9.26 DDC TH
18 phytoalexin metabolic process GO:0052314 9.16 DDC TH
19 aromatic amino acid family metabolic process GO:0009072 9.13 TH TPH1 TPH2
20 serotonin biosynthetic process GO:0042427 8.8 DDC TPH1 TPH2

Molecular functions related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.62 CYP21A2 TH TPH1 TPH2
2 iron ion binding GO:0005506 9.46 CYP21A2 TH TPH1 TPH2
3 tryptophan 5-monooxygenase activity GO:0004510 9.26 TPH1 TPH2
4 amino acid binding GO:0016597 9.13 CASR DDC TH
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 8.8 TH TPH1 TPH2

Sources for Autoimmune Polyendocrine Syndrome Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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